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Q24648149-21E1E340-9037-4510-B32E-535C0119AF81
Q24648149-21E1E340-9037-4510-B32E-535C0119AF81
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http://www.wikidata.org/entity/statement/Q24648149-21E1E340-9037-4510-B32E-535C0119AF81
Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes
P2860
Q24648149-21E1E340-9037-4510-B32E-535C0119AF81
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http://www.wikidata.org/entity/statement/Q24648149-21E1E340-9037-4510-B32E-535C0119AF81
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c206bfe9f3e586ed85db28da6bceca0abeaa13e3
P2860
Compound heterozygosity for COL7A1 mutations in twins with dystrophic epidermolysis bullosa: a recessive paternal deletion/insertion mutation and a dominant negative maternal glycine substitution result in a severe phenotype.